Tuesday, November 10, 2015

Genetic Disease: Autism

Autism is also sometimes known as autism spectrum disorder. Both of these terms describe a group of complex disorders of brain development. These complex disorders of brain development come in different levels of severity including social interaction, verbal and nonverbal communication and repetitive behaviors.
Some of the symptoms of this disease include difficulties in motor coordination and attention. Also, lower physical health. Although many of the symptoms appear to be negative, an individual with autism spectrum disorder may also appear to excel in visual skills, music, math and art. An individual with autism will typically show symptoms between the ages of 2 and 3 years of age so that tells us that autism appears to have roots in early brain development. When a child is diagnosed with autism spectrum disorder, the symptoms will improve with age and treatment to where they can live a normal or near normal life.
As stated above autism is on a large spectrum meaning that there is no one type of autism also meaning that there is no one cause of autism. Throughout the past few years they were able to discover rare changes in genes that are associated with autism and some of them are sufficient enough to be the cause of autism alone. Although, scientists have now come to believe that autism is a combination of risk genes as well as environmental factors that have an influence on early brain development. To try and understand more about this confusing genetic relation, scientist started comparing the DNA of autistic children to their parents DNA. According to many studies autism appears to be genetically heterogeneous which means that multiple loci are involved. Several genome studies have shown that at least two  loci on the X chromosome are associated with a predisposition to autism.
Autism spectrum disorder affects one out of every 68 children in the USA and it occurs more often in boys than girls. It is not for sure discovered what gene is affected although some doctors have come to believe that there is a certain cluster of unstable genes that interfere with brain development resulting in autism. It is believed that sometimes the symptoms of a genetic disease are caused by a specific protein being made or not being made within the body. In regards to autism spectrum disorder some scientists have shown how a single protein may trigger autism spectrum disorder by stopping effective communication between brain cells.


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